Canonical Allele Identifier: CA733128392
Community Standard Title: NM_152490.5(B3GALNT2):c.113-14G>A
Gene: B3GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235494842C>T , CM000663.2:g.235494842C>T GRCh38
NC_000001.10:g.235658152C>T , CM000663.1:g.235658152C>T GRCh37
NC_000001.9:g.233724775C>T NCBI36
NG_033219.2:g.14640G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152490.5:c.113-14G>A MANE Select NP_689703.1:n.113-14G>A
ENST00000366600.8:c.113-14G>A MANE Select ENSP00000355559.3:n.113-14G>A
NM_001277155.2:c.236-14G>A NP_001264084.1:n.236-14G>A
NM_001277155.3:c.236-14G>A NP_001264084.1:n.236-14G>A
NM_152490.4:c.113-14G>A NP_689703.1:n.113-14G>A
ENST00000313984.3:c.236-14G>A ENSP00000315678.3:n.236-14G>A
ENST00000366600.7:c.113-14G>A ENSP00000355559.3:n.113-14G>A
ENST00000494378.1:n.286-14G>A
ENST00000612859.4:c.113-14G>A ENSP00000481548.1:n.113-14G>A
ENST00000675193.1:c.236-14G>A ENSP00000502069.1:n.236-14G>A
ENST00000675555.1:c.-110-14G>A ENSP00000501896.1:n.-110-14G>A
ENST00000676288.1:c.236-14G>A ENSP00000502392.1:n.236-14G>A
XM_005273071.3:c.113-14G>A XP_005273128.1:n.113-14G>A
XM_006711749.2:c.113-14G>A XP_006711812.1:n.113-14G>A
XM_006711749.3:c.113-14G>A XP_006711812.1:n.113-14G>A
XM_011544096.1:c.113-14G>A XP_011542398.1:n.113-14G>A
XM_011544097.1:c.113-14G>A XP_011542399.1:n.113-14G>A
XM_017000394.1:c.236-14G>A XP_016855883.1:n.236-14G>A
XM_017000395.1:c.236-14G>A XP_016855884.1:n.236-14G>A
XR_001736987.1:n.401-14G>A
XR_001736988.1:n.401-14G>A
XR_001736989.1:n.401-14G>A
XR_001736990.1:n.284-14G>A